MCID: SYN109
MIFTS: 10

Syndrome with a Dandy-Walker Malformation As Major Feature

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndrome with a Dandy-Walker Malformation As Major Feature

MalaCards integrated aliases for Syndrome with a Dandy-Walker Malformation As Major Feature:

Name: Syndrome with a Dandy-Walker Malformation As Major Feature 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA269546

Summaries for Syndrome with a Dandy-Walker Malformation As Major Feature

MalaCards based summary : Syndrome with a Dandy-Walker Malformation As Major Feature is related to genetic syndrome with a dandy-walker malformation as major feature and mental retardation, autosomal recessive 55. An important gene associated with Syndrome with a Dandy-Walker Malformation As Major Feature is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways is Semaphorin Signaling. Related phenotype is Decreased viability in esophageal squamous lineage.

Related Diseases for Syndrome with a Dandy-Walker Malformation As Major Feature

Diseases related to Syndrome with a Dandy-Walker Malformation As Major Feature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 genetic syndrome with a dandy-walker malformation as major feature 32.1 TUBA1A SETD2 PUS3 HYLS1 BRAF
2 mental retardation, autosomal recessive 55 9.8 PUS3 HYLS1
3 hydrolethalus syndrome 1 9.8 PUS3 HYLS1
4 renal cell carcinoma, papillary, 1 9.2 SETD2 BRAF

Symptoms & Phenotypes for Syndrome with a Dandy-Walker Malformation As Major Feature

GenomeRNAi Phenotypes related to Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.02 BRAF DPYSL5 HYLS1 SETD2 TUBA1A

Drugs & Therapeutics for Syndrome with a Dandy-Walker Malformation As Major Feature

Search Clinical Trials , NIH Clinical Center for Syndrome with a Dandy-Walker Malformation As Major Feature

Genetic Tests for Syndrome with a Dandy-Walker Malformation As Major Feature

Anatomical Context for Syndrome with a Dandy-Walker Malformation As Major Feature

Publications for Syndrome with a Dandy-Walker Malformation As Major Feature

Variations for Syndrome with a Dandy-Walker Malformation As Major Feature

ClinVar genetic disease variations for Syndrome with a Dandy-Walker Malformation As Major Feature:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPYSL5 NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)SNV Uncertain significance 632587 rs1558337060 2:27121506-27121506 2:26898638-26898638

Expression for Syndrome with a Dandy-Walker Malformation As Major Feature

Search GEO for disease gene expression data for Syndrome with a Dandy-Walker Malformation As Major Feature.

Pathways for Syndrome with a Dandy-Walker Malformation As Major Feature

Pathways related to Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.28 DPYSL5 BRAF

GO Terms for Syndrome with a Dandy-Walker Malformation As Major Feature

Sources for Syndrome with a Dandy-Walker Malformation As Major Feature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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